Restrictive dermopathy

A congenital genodermatosis with skin/mucosae involvement, characterized by very tight and thin skin with erosions and scaling, associated to a typical facial dysmorphism, arthrogryposis multiplex, fetal akinesia or hypokinesia deformation sequence (FADS) and pulmonary hypoplasia without neurological abnormalities.

患者の徴候・症状を入力

症例報告を絞り込む

合計: 38 （症例報告）

（表示件数）

対応する徴候・症状遺伝子変異キーワード（MeSH）

順位（類似度）	PMID (PMCID)
1 (65.0%)	21121943	Restrictive dermopathy in a Turkish newborn. Yesil G, Hatipoglu L, Esteves-Vieira V, Levy N, De Sandre-Giovannoli A, Tuysuz B. Pediatr Dermatol. 2011;28(4):408-11. [ 抄録を表示 ] [ 抄録を非表示 ]
		小顎後退疎な睫毛出産歯
		LMNA ZMPSTE24
		p\|FS\|L\|362\|F\|19;RS#:137854889\|553349565 rs137854889
		Molecular Sequence Data エクソンヒト塩基配列変異女拘縮新生児男皮膚異常絨毛検査膜タンパク質致死的転帰遺伝相談金属エンドペプチダーゼ
2 (63.5%)	15897383	Restrictive dermopathy associated with transposition of the great arteries and microcolon: a rare neonatal entity with new symptoms. Armbrust S, Hoffmann R, Jochum F, Neumann LM, Fusch C. Arch Dermatol. 2005;141(5):611-3. [ 抄録を表示 ] [ 抄録を非表示 ]
		小顎睫毛欠損


		ヒト劣性遺伝子大血管転位症女新生児皮膚異常脂肪酸輸送体致死的転帰
3 (60.5%)	14515974	Restrictive dermopathy in two sisters. Hou JW, Mai CF. Chang Gung Med J. 2003;26(7):510-4. [ 抄録を表示 ] [ 抄録を非表示 ]
		開口小顎


		Preterm Infant ヒト女成人拘縮新生児皮膚異常
4 (59.0%)	21108632 (3117019)	Homozygous null mutations in ZMPSTE24 in restrictive dermopathy: evidence of genetic heterogeneity. Ahmad Z, Phadke SR, Arch E, Glass J, Agarwal AK, Garg A. Clin Genet. 2012;81(2):158-64. [ 抄録を表示 ] [ 抄録を非表示 ]
		小顎顔面表情固定
		LMNA ZMPSTE24
		c\|DUP\|1085\|T\|;RS#:137854889 c\|SUB\|G\|1020\|A;RS#:281875372 p\|FS\|L\|362\|F\|19;RS#:137854889\|553349565 p\|SUB\|W\|340\|X;RS#:281875372 rs137854889 rs16827109 rs2076697 rs2485661 rs2485662 rs281875372 rs3775483 rs4641 rs6677717 rs7548758 rs9326050
		アミノ酸置換エクソンヒトプロモーター領域ホモ接合体ラミンA 塩基配列変異女拘縮新生児死産男皮膚皮膚異常膜タンパク質致死的転帰表現型遺伝的多様性金属エンドペプチダーゼ
4 (59.0%)	16184949	[Restrictive dermopathy: a rare, lethal genodermatosis]. Straver B, Koopmans AK, van Hagen JM, Fetter WP. Ned Tijdschr Geneeskd. 2005;149(37):2062-6. [ 抄録を表示 ] [ 抄録を非表示 ]
		小顎顔面表情固定
		ELN ZMPSTE24

		Preterm Infant ヒト変異拘縮新生児男皮膚皮膚異常致死的転帰
6 (57.8%)	16278265	A homozygous mutation in the lamin A/C gene associated with a novel syndrome of arthropathy, tendinous calcinosis, and progeroid features. Van Esch H, Agarwal AK, Debeer P, Fryns JP, Garg A. J Clin Endocrinol Metab. 2006;91(2):517-21. [ 抄録を表示 ] [ 抄録を非表示 ]
		小顎
		LMNA ZMPSTE24
		c\|SUB\|C\|1718\|T;RS#:60890628 p\|SUB\|S\|573\|L;RS#:60890628 rs60890628
		ウェルナー症候群ヒトミスセンス変異ラミンA 成人男症候群石灰沈着致死的転帰関節疾患
7 (39.3%)	11426829	Restrictive dermopathy: report of a case and review of the literature. Wesche WA, Cutlan RT, Khare V, Chesney T, Shanklin D. J Cutan Pathol. 2001;28(4):211-8. [ 抄録を表示 ] [ 抄録を非表示 ]
		開口屈曲拘縮


		ヒト新生児皮膚異常線維芽細胞致死的転帰表皮電子顕微鏡顔貌
8 (27.8%)	19383993	Prenatal diagnosis of restrictive dermopathy. Jagadeesh S, Bhat L, Suresh I, Muralidhar SL. Indian Pediatr. 2009;46(4):349-51. [ 抄録を表示 ] [ 抄録を非表示 ]
		開口
		SLC6A6
		rs281875369
		ヒト変異女拘縮新生児皮膚異常膜タンパク質金属エンドペプチダーゼ
8 (27.8%)	18470519	Restrictive dermopathy: a rare laminopathy. Thill M, Nguyen TD, Wehnert M, Fischer D, Hausser I, Braun S, Jackisch C. Arch Gynecol Obstet. 2008;278(3):201-8. [ 抄録を表示 ] [ 抄録を非表示 ]
		開口
		ZMPSTE24
		rs281875378
		ヒト女妊娠新生児男皮膚異常致死的転帰若年成人
8 (27.8%)	17286315	Complete chorioamniotic membrane separation with fetal restrictive dermopathy in two consecutive pregnancies. Kim YN, Jeong DH, Jeong SJ, Sung MS, Kang MS, Kim KT. Prenat Diagn. 2007;27(4):352-5. [ 抄録を表示 ] [ 抄録を非表示 ]
		開口


		ヒト出生前超音波検査前期破水女妊娠妊娠合併症新生児絨毛膜羊水過少胎児死亡

徴候・症状リスト（Orphanetデータベースから取得）

合計: 58

HPO ID	徴候・症状	頻度
HP:0030053	Stiff skin	Obligate (100%)
HP:0000160	狭い口	Very frequent (99-80%)
HP:0000176	粘膜下硬口蓋裂	Very frequent (99-80%)
HP:0000316	両眼隔離	Very frequent (99-80%)
HP:0000347	小顎	Very frequent (99-80%)
HP:0000369	耳介低位	Very frequent (99-80%)
HP:0000494	眼瞼裂斜下	Very frequent (99-80%)
HP:0000506	内眼角外方偏位	Very frequent (99-80%)
HP:0000621	内反(眼瞼)	Very frequent (99-80%)
HP:0000883	細い肋骨	Very frequent (99-80%)
HP:0000938	骨減少症	Very frequent (99-80%)
HP:0001196	短い臍帯	Very frequent (99-80%)
HP:0001511	子宮内成長遅滞	Very frequent (99-80%)
HP:0001558	胎動減少	Very frequent (99-80%)
HP:0001622	早産	Very frequent (99-80%)
HP:0001643	動脈管開存症	Very frequent (99-80%)
HP:0002089	肺低形成	Very frequent (99-80%)
HP:0002597	血管の異常	Very frequent (99-80%)
HP:0002804	先天性多発性関節拘縮	Very frequent (99-80%)
HP:0002828	多発性関節拘縮	Very frequent (99-80%)
HP:0004331	頭蓋骨骨化減少	Very frequent (99-80%)
HP:0004334	皮膚萎縮	Very frequent (99-80%)
HP:0004492	泉門および縫合開大	Very frequent (99-80%)
HP:0005253	胸郭前後径増加	Very frequent (99-80%)
HP:0005267	子宮頸部不全または膜脆弱性による早産	Very frequent (99-80%)
HP:0005595	全身性過角化症	Very frequent (99-80%)
HP:0006266	小さい胎盤	Very frequent (99-80%)
HP:0006645	細い鎖骨	Very frequent (99-80%)
HP:0006710	鎖骨無形成/低形成	Very frequent (99-80%)
HP:0007543	表皮過角化症	Very frequent (99-80%)
HP:0007592	エクリン汗腺無形成/低形成	Very frequent (99-80%)
HP:0008070	疎な毛髪	Very frequent (99-80%)
HP:0009924	鼻の無形成/低形成	Very frequent (99-80%)
HP:0010219	足の構造異常	Very frequent (99-80%)
HP:0010648	皮膚透明性	Very frequent (99-80%)
HP:0012478	側頭骨下顎関節強直	Very frequent (99-80%)
HP:0012745	短い眼瞼裂	Very frequent (99-80%)
HP:0025354	異常な細胞表現型	Very frequent (99-80%)
HP:0040189	Scaling skin	Very frequent (99-80%)
HP:0045075	Sparse eyebrow	Very frequent (99-80%)
HP:0200041	皮膚びらん	Very frequent (99-80%)
HP:0200102	疎な/欠損した睫毛	Very frequent (99-80%)
HP:0000047	尿道下裂	Occasional (29-5%)
HP:0000073	尿管重複	Occasional (29-5%)
HP:0000453	後鼻孔閉鎖	Occasional (29-5%)
HP:0000465	翼状頚	Occasional (29-5%)
HP:0000695	出産歯	Occasional (29-5%)
HP:0001561	羊水過多	Occasional (29-5%)
HP:0001631	心房中隔欠損	Occasional (29-5%)
HP:0001651	右胸心	Occasional (29-5%)
HP:0001669	大血管転位	Occasional (29-5%)
HP:0001799	短い爪	Occasional (29-5%)
HP:0004388	小結腸	Occasional (29-5%)
HP:0005111	上行大動脈拡張	Occasional (29-5%)
HP:0005659	胸部後側弯	Occasional (29-5%)
HP:0006267	大きな骨盤	Occasional (29-5%)
HP:0008244	先天性副腎低形成	Occasional (29-5%)
HP:0100490	屈指	Occasional (29-5%)

徴候・症状リスト（症例報告から取得）

合計: 12

HPO ID	徴候・症状	症例報告数
HP:0002304	無動症	4
HP:0002375	運動減少	4
HP:0002093	呼吸不全	3
HP:0001019	紅皮症	1
HP:0001196	短い臍帯	1
HP:0001638	心筋症	1
HP:0002063	硬直	1
HP:0002089	肺低形成	1
HP:0004388	小結腸	1
HP:0007543	表皮過角化症	1
HP:0009125	リポジストロフィー	1
HP:0010512	副腎石灰化	1

疾患原因遺伝子リスト（Orphanetデータベースから取得）

合計: 2

Gene Symbol	遺伝子名	Entrez Gene ID
ZMPSTE24	zinc metallopeptidase STE24	10269
LMNA	lamin A/C	4000